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Search references for UNC13D. Phrases containing UNC13D
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Search references for UNC13D. Phrases containing UNC13D
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Immune disorder in the blood leading to hyperinflammation
and cytotoxic T-cell) function. The mutated genes are PRF1 (perforin-1), UNC13D, STX11, and STXBP2. Secondary HLH usually presents in adulthood (usually
Hemophagocytic lymphohistiocytosis
Hemophagocytic_lymphohistiocytosis
Protein-coding gene in humans
also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene. Munc13-4 is a member of the UNC13 family, containing similar domain
UNC13D
Protein family
Extended-Synaptotagmin (E-Syt) membrane proteins, and MCTPs) and soluble (RIMS1 and RIMS2, UNC13D, synaptotagmin-related proteins and B/K) proteins. The family includes synaptotagmin
Synaptotagmin
Mammalian protein found in Homo sapiens
cytotoxicity and by mutations in PRF1 or other FHL-associated genes such as UNC13D, STX11, and STXBP2. Sub-acute perforinopathies result from partial loss
Perforin-1
type 2 Familial hemophagocytic lymphohistiocytosis: perforin deficiency, UNC13D deficiency, syntaxin 11 deficiency X-linked lymphoproliferative syndrome
List of primary immunodeficiencies
List_of_primary_immunodeficiencies
Group of disorders
targeted cells such as those infected with EBV. These include mutations in the UNC13D, STX11, RAB27A, STXBP2, and LYST genes that encode elements needed for these
Epstein–Barr virus–associated lymphoproliferative diseases
Epstein–Barr_virus–associated_lymphoproliferative_diseases
Protein-coding gene in the species Homo sapiens
2013). "A network of interactions enables CCM3 and STK24 to coordinate UNC13D-driven vesicle exocytosis in neutrophils". Developmental Cell. 27 (2): 215–226
STK24
Q9UPW8 17893 UNC13B HGNC:12566; O14795 17894 UNC13C HGNC:23149; Q8NB66 17895 UNC13D HGNC:23147; Q70J99 17896 UNC45A HGNC:30594; Q9H3U1 17897 UNC45B HGNC:14304;
List of human protein-coding genes 8
List_of_human_protein-coding_genes_8
Protein domain
SYT9; SYTL1; SYTL2; SYTL3; SYTL4; SYTL5; TOLLIP; UNC13A; UNC13B; UNC13C; UNC13D; WWC2; WWP1; WWP2; PTEN Walker EH, Pacold ME, Perisic O, Stephens L, Hawkins
C2_domain
2; 603553; PRF1 Hemophagocytic lymphohistiocytosis, familial, 3; 608898; UNC13D Hemophagocytic lymphohistiocytosis, familial, 4; 603552; STX11 Hemophilia
List_of_OMIM_disorder_codes
Protein-coding gene in humans
hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A". Human Mutation. 27 (1): 62–8. doi:10.1002/humu.20274
STX11
UNC13D
UNC13D
UNC13D
UNC13D
Girl/Female
Arabic, Muslim
Beautiful; Flower
Girl/Female
Hindu, Indian, Marathi
The Sun
Boy/Male
Indian, Punjabi, Sikh
One whose Abode is the Lord
Boy/Male
Muslim
Wise
Boy/Male
Hindu
Boy/Male
Biblical
Son of the honorable.
Boy/Male
Indian, Punjabi, Sikh
Worshipper of the Supreme Being
Male
English
Anglicized form of Welsh Rhys, REES means "ardor, heat of passion."
Boy/Male
Hindu
A gem in Lord vishnus breast
Boy/Male
German, Irish, Teutonic
Famous Warrior
UNC13D
UNC13D
UNC13D
UNC13D
UNC13D